Incidental Mutation 'R4059:Agbl3'
ID 314379
Institutional Source Beutler Lab
Gene Symbol Agbl3
Ensembl Gene ENSMUSG00000038836
Gene Name ATP/GTP binding protein-like 3
Synonyms Ccp3, 2900053G10Rik, 6530406M24Rik, Ccp3, 4930431N21Rik
MMRRC Submission 040970-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4059 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 34757367-34836394 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34823834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 833 (L833P)
Ref Sequence ENSEMBL: ENSMUSP00000110669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115016] [ENSMUST00000115017] [ENSMUST00000148834]
AlphaFold Q8CDP0
Predicted Effect probably damaging
Transcript: ENSMUST00000115016
AA Change: L838P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110668
Gene: ENSMUSG00000038836
AA Change: L838P

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Pfam:Peptidase_M14 314 563 2.7e-19 PFAM
low complexity region 614 629 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115017
AA Change: L833P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110669
Gene: ENSMUSG00000038836
AA Change: L833P

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Pfam:Peptidase_M14 309 560 1e-33 PFAM
low complexity region 609 624 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148834
SMART Domains Protein: ENSMUSP00000116066
Gene: ENSMUSG00000038836

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202017
Meta Mutation Damage Score 0.2130 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (54/55)
MGI Phenotype PHENOTYPE: Homozygous mice for a targeted allele are viable and fertile. Mice homozygous for a knock-out allele exhibit normal response to herpes simplex virus (HSV) and vaccinia virus (VACV) infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930453N24Rik A G 16: 64,586,821 (GRCm39) V301A probably benign Het
Amph T C 13: 19,326,168 (GRCm39) S633P probably damaging Het
Aspscr1 T C 11: 120,577,505 (GRCm39) V60A probably benign Het
Atp13a3 C A 16: 30,173,064 (GRCm39) C271F possibly damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
BC051019 C T 7: 109,317,202 (GRCm39) W163* probably null Het
Capza1 T C 3: 104,732,427 (GRCm39) E245G probably damaging Het
Cd81 G T 7: 142,619,030 (GRCm39) C18F probably damaging Het
Cfap45 G T 1: 172,366,056 (GRCm39) R303L probably benign Het
Commd9 T C 2: 101,725,499 (GRCm39) V24A possibly damaging Het
Dennd4a A G 9: 64,819,174 (GRCm39) N1742D possibly damaging Het
Dgat1 G T 15: 76,388,371 (GRCm39) A182D possibly damaging Het
Dlg4 T C 11: 69,917,909 (GRCm39) L64P probably benign Het
Dna2 A G 10: 62,792,768 (GRCm39) D261G probably damaging Het
Epb41l4b C T 4: 57,024,337 (GRCm39) probably null Het
Fam13c T C 10: 70,390,338 (GRCm39) L533P probably damaging Het
Fjx1 T C 2: 102,281,066 (GRCm39) T290A possibly damaging Het
Hid1 C T 11: 115,247,565 (GRCm39) E278K probably damaging Het
Hsd3b7 T C 7: 127,400,717 (GRCm39) I57T probably damaging Het
Igfn1 A G 1: 135,897,494 (GRCm39) V1024A probably benign Het
Itgae A G 11: 73,002,960 (GRCm39) K175E probably benign Het
Klhl32 T C 4: 24,792,781 (GRCm39) T14A probably damaging Het
Krt23 T C 11: 99,376,614 (GRCm39) T181A probably benign Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc36 A G 8: 106,154,428 (GRCm39) E33G probably damaging Het
Mettl13 G T 1: 162,373,755 (GRCm39) H165Q probably damaging Het
Mocos G A 18: 24,812,447 (GRCm39) G447D probably damaging Het
Ngef T A 1: 87,413,953 (GRCm39) K399N probably damaging Het
Ntrk1 A G 3: 87,688,786 (GRCm39) L589P probably damaging Het
Or4c104 C T 2: 88,586,795 (GRCm39) V75I probably benign Het
Pcdha2 A G 18: 37,072,935 (GRCm39) S189G probably benign Het
Peg10 T G 6: 4,756,427 (GRCm39) probably benign Het
Pkhd1l1 C T 15: 44,414,156 (GRCm39) H2808Y probably benign Het
Plekhg1 A G 10: 3,907,087 (GRCm39) D668G probably damaging Het
Ptcd2 A G 13: 99,481,084 (GRCm39) C32R probably damaging Het
Rgs8 A G 1: 153,566,742 (GRCm39) T98A probably null Het
Rhoh G A 5: 66,049,931 (GRCm39) S67N probably benign Het
Rnd3 A G 2: 51,038,760 (GRCm39) F43L probably damaging Het
Runx1 A G 16: 92,441,134 (GRCm39) V225A probably benign Het
Runx1t1 T C 4: 13,889,769 (GRCm39) V566A probably benign Het
Sall2 A G 14: 52,552,028 (GRCm39) I387T probably damaging Het
Sec14l1 T A 11: 117,040,024 (GRCm39) V384D possibly damaging Het
Sh3rf3 T C 10: 58,919,355 (GRCm39) C491R probably damaging Het
Slc22a27 T A 19: 7,856,973 (GRCm39) probably benign Het
Spire1 A G 18: 67,678,783 (GRCm39) S53P probably damaging Het
Tmco3 A G 8: 13,370,848 (GRCm39) R671G probably benign Het
Tmpo A G 10: 90,998,123 (GRCm39) S555P probably benign Het
Tnip1 A G 11: 54,802,395 (GRCm39) S638P probably benign Het
Tspan8 C T 10: 115,671,187 (GRCm39) R115* probably null Het
Txnrd1 A G 10: 82,721,114 (GRCm39) E510G probably benign Het
Ucp3 T C 7: 100,131,871 (GRCm39) Y241H probably damaging Het
Vmn2r96 A G 17: 18,818,339 (GRCm39) I831V probably benign Het
Zan T C 5: 137,435,082 (GRCm39) I2104V unknown Het
Zfp619 A C 7: 39,184,823 (GRCm39) R284S probably benign Het
Zfp715 T C 7: 42,951,155 (GRCm39) M48V probably benign Het
Other mutations in Agbl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Agbl3 APN 6 34,823,771 (GRCm39) missense probably damaging 1.00
IGL00835:Agbl3 APN 6 34,776,667 (GRCm39) missense probably damaging 1.00
IGL00840:Agbl3 APN 6 34,776,094 (GRCm39) missense possibly damaging 0.95
IGL01090:Agbl3 APN 6 34,776,822 (GRCm39) missense probably benign 0.40
IGL01123:Agbl3 APN 6 34,823,911 (GRCm39) nonsense probably null
IGL01707:Agbl3 APN 6 34,816,389 (GRCm39) missense possibly damaging 0.78
IGL01728:Agbl3 APN 6 34,759,092 (GRCm39) start codon destroyed probably null
IGL02335:Agbl3 APN 6 34,776,685 (GRCm39) missense probably damaging 1.00
IGL02420:Agbl3 APN 6 34,762,242 (GRCm39) missense possibly damaging 0.47
IGL02551:Agbl3 APN 6 34,800,006 (GRCm39) missense possibly damaging 0.88
IGL02974:Agbl3 APN 6 34,776,757 (GRCm39) missense probably damaging 1.00
IGL03167:Agbl3 APN 6 34,834,594 (GRCm39) missense possibly damaging 0.92
IGL03182:Agbl3 APN 6 34,780,435 (GRCm39) missense probably damaging 1.00
R0044:Agbl3 UTSW 6 34,776,834 (GRCm39) missense probably damaging 1.00
R0499:Agbl3 UTSW 6 34,816,270 (GRCm39) missense probably benign
R0639:Agbl3 UTSW 6 34,776,640 (GRCm39) missense probably damaging 1.00
R0850:Agbl3 UTSW 6 34,776,139 (GRCm39) missense probably damaging 1.00
R1004:Agbl3 UTSW 6 34,780,386 (GRCm39) missense probably damaging 0.99
R1080:Agbl3 UTSW 6 34,805,170 (GRCm39) missense probably benign 0.14
R1589:Agbl3 UTSW 6 34,834,452 (GRCm39) missense possibly damaging 0.77
R2361:Agbl3 UTSW 6 34,809,440 (GRCm39) missense possibly damaging 0.87
R2495:Agbl3 UTSW 6 34,823,699 (GRCm39) missense probably damaging 1.00
R3236:Agbl3 UTSW 6 34,800,022 (GRCm39) splice site probably null
R3237:Agbl3 UTSW 6 34,800,022 (GRCm39) splice site probably null
R3420:Agbl3 UTSW 6 34,770,900 (GRCm39) missense probably benign 0.36
R3421:Agbl3 UTSW 6 34,770,900 (GRCm39) missense probably benign 0.36
R3422:Agbl3 UTSW 6 34,770,900 (GRCm39) missense probably benign 0.36
R3810:Agbl3 UTSW 6 34,776,664 (GRCm39) missense probably damaging 1.00
R3811:Agbl3 UTSW 6 34,776,664 (GRCm39) missense probably damaging 1.00
R4499:Agbl3 UTSW 6 34,834,533 (GRCm39) missense probably benign 0.00
R4687:Agbl3 UTSW 6 34,775,261 (GRCm39) missense probably damaging 1.00
R4854:Agbl3 UTSW 6 34,762,219 (GRCm39) missense probably damaging 0.97
R5354:Agbl3 UTSW 6 34,791,687 (GRCm39) missense probably benign 0.03
R5386:Agbl3 UTSW 6 34,776,131 (GRCm39) missense probably damaging 1.00
R5897:Agbl3 UTSW 6 34,780,508 (GRCm39) missense probably benign 0.21
R6018:Agbl3 UTSW 6 34,776,190 (GRCm39) missense probably damaging 1.00
R6148:Agbl3 UTSW 6 34,834,688 (GRCm39) missense possibly damaging 0.87
R6305:Agbl3 UTSW 6 34,759,145 (GRCm39) missense unknown
R6525:Agbl3 UTSW 6 34,780,529 (GRCm39) nonsense probably null
R6546:Agbl3 UTSW 6 34,776,234 (GRCm39) missense probably damaging 1.00
R6743:Agbl3 UTSW 6 34,823,888 (GRCm39) missense probably benign 0.03
R6986:Agbl3 UTSW 6 34,816,387 (GRCm39) missense probably benign 0.42
R7023:Agbl3 UTSW 6 34,791,704 (GRCm39) missense probably benign 0.02
R7411:Agbl3 UTSW 6 34,791,754 (GRCm39) missense probably damaging 0.99
R7469:Agbl3 UTSW 6 34,791,349 (GRCm39) missense probably damaging 1.00
R7631:Agbl3 UTSW 6 34,834,606 (GRCm39) missense possibly damaging 0.95
R7658:Agbl3 UTSW 6 34,809,443 (GRCm39) missense probably benign 0.11
R7743:Agbl3 UTSW 6 34,823,765 (GRCm39) missense probably damaging 1.00
R7801:Agbl3 UTSW 6 34,816,300 (GRCm39) missense probably benign 0.00
R8033:Agbl3 UTSW 6 34,816,429 (GRCm39) missense possibly damaging 0.95
R8203:Agbl3 UTSW 6 34,776,414 (GRCm39) missense probably damaging 1.00
R8769:Agbl3 UTSW 6 34,834,549 (GRCm39) missense probably damaging 0.96
R9072:Agbl3 UTSW 6 34,776,387 (GRCm39) missense probably damaging 1.00
R9073:Agbl3 UTSW 6 34,776,387 (GRCm39) missense probably damaging 1.00
R9210:Agbl3 UTSW 6 34,775,177 (GRCm39) missense probably damaging 0.98
R9255:Agbl3 UTSW 6 34,789,840 (GRCm39) missense probably damaging 1.00
R9536:Agbl3 UTSW 6 34,823,861 (GRCm39) missense probably benign
R9560:Agbl3 UTSW 6 34,823,843 (GRCm39) missense possibly damaging 0.94
R9662:Agbl3 UTSW 6 34,809,468 (GRCm39) nonsense probably null
RF014:Agbl3 UTSW 6 34,776,293 (GRCm39) missense possibly damaging 0.53
Z1177:Agbl3 UTSW 6 34,776,343 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGTATAAATATTTGTGGTTGCTCCC -3'
(R):5'- ACAAGCCGTGCTTCCTTATAAAAC -3'

Sequencing Primer
(F):5'- GTGGTTGCTCCCTAGAGTCAC -3'
(R):5'- GGTAGCTTAGAGGTAGAACATTTGC -3'
Posted On 2015-04-30